Article
Oncology
Carlotta Antoniotti, W. Michael Korn, Federica Marmorino, Daniele Rossini, Sara Lonardi, Gianluca Masi, Giovanni Randon, Veronica Conca, Alessandra Boccaccino, Gianluca Tomasello, Alessandro Passardi, Jeff Swensen, Clara Ugolini, Matthew Oberley, Emiliano Tamburini, Mariaelena Casagrande, Valeriy Domenyuk, Gabriella Fontanini, Mirella Giordano, Jim Abraham, David Spetzler, Alfredo Falcone, Heinz-Josef Lenz, Chiara Cremolini
Summary: This study conducted comprehensive genomic profiling of tumour samples from metastatic colorectal cancer patients, revealing a strong association between high TMB and MSI-H, and suggested an optimal threshold of 17 mut/Mb for predicting MSI status. Additionally, actionable mutations were identified in 21% of the patients.
EUROPEAN JOURNAL OF CANCER
(2021)
Article
Multidisciplinary Sciences
Dongsung Kim, Lorenz Herdeis, Dorothea Rudolph, Yulei Zhao, Jark Boettcher, Alberto Vides, Carlos I. I. Ayala-Santos, Yasin Pourfarjam, Antonio Cuevas-Navarro, Jenny Y. Xue, Andreas Mantoulidis, Joachim Broeker, Tobias Wunberg, Otmar Schaaf, Johannes Popow, Bernhard Wolkerstorfer, Katrin Gabriele Kropatsch, Rui Qu, Elisa de Stanchina, Ben Sang, Chuanchuan Li, Darryl B. B. McConnell, Norbert Kraut, Piro Lito
Summary: This study reports the discovery of a non-covalent inhibitor that selectively binds to the inactive state of KRAS while sparing other RAS isoforms. The inhibitor blocks nucleotide exchange and inhibits the activation of wild-type and various KRAS mutants. It shows promising therapeutic potential for KRAS-driven cancers.
Review
Pharmacology & Pharmacy
Liu-Fang Ye, Zi-Yao Huang, Xiao-Xi Chen, Zhi-Gang Chen, Si-Xian Wu, Chao Ren, Ming-Tao Hu, Hua Bao, Ying Jin, Feng Wang, Feng-Hua Wang, Zi-Ming Du, Xue Wu, Huai-Qiang Ju, Yang Shao, Yu-Hong Li, Rui-Hua Xu, De-Shen Wang
Summary: This study aimed to identify mechanisms of drug resistance to the combination of vemurafenib, irinotecan, and cetuximab (VIC) in BRAFV600E metastatic colorectal cancer (mCRC). The results showed that BRAF mutant in baseline plasma and its dynamics are significantly associated with VIC-related response, and concurrent RNF43 mutation significantly sensitises tumour to VIC treatment. VIC resistance frequently involves genes in PI3K, MAPK pathway, and several novel resistance mechanisms such as TGFBR2 and SMAD4 mutations. Additionally, acquired altered genes in DNA damaging repair pathway were identified in 33% of patients after VIC treatment, and these patients with pre-treatment resistance subclones developed inferior responses, along with higher tumour mutation burden both at baseline and progression plasma.
DRUG RESISTANCE UPDATES
(2022)
Article
Multidisciplinary Sciences
Georgette Tanner, David R. Westhead, Alastair Droop, Lucy F. Stead
Summary: Intratumour heterogeneity provides tumors with adaptability and treatment resistance, requiring accurate clonal architecture characterization for effective cancer treatments. A lack of systematic benchmarking for subclonal deconvolution methods led the authors to simulate different tumor genomes to identify the optimal pipelines for achieving accurate results.
NATURE COMMUNICATIONS
(2021)
Article
Oncology
Richard van der Meer, Judith W. M. Jeuken, Steven L. L. Bosch, Felice N. N. van Erning, Lieke H. J. Simkens, Ignace H. J. T. de Hingh, Rudi M. H. Roumen
Summary: This study found a complete biomarker concordance between MMR proficient CRC and their matching ovarian metastases. Biomarker testing of MMR proficient CRC tissue appears to be sufficient, and additional testing of metastatic ovarian tissue is not necessary. Therefore, differences in therapy response between ovarian metastases and other metastases from CRC are unlikely to be caused by differences in the genetic status.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Review
Genetics & Heredity
Daria Grafodatskaya, Darren D. O'Rielly, Karine Bedard, Darci T. Butcher, Christopher J. Howlett, Alice Lytwyn, Elizabeth McCready, Jillian Parboosingh, Elizabeth L. Spriggs, Andrea K. Vaags, Tracy L. Stockley
Summary: This document provides considerations and recommendations for Canadian clinical laboratories developing, validating, and offering next-generation sequencing (NGS)-based BRCA1/2 tumor testing in ovarian cancers. It was drafted by the Canadian College of Medical Geneticists (CCMG) BRCA Ad Hoc Working Group and representatives from the Canadian Association of Pathologists, and approved by the CCMG board of directors. However, the current CCMG Practice Guidelines do not include all the information laboratories should consider when validating and using NGS for BRCA1/2 tumor testing in ovarian cancers.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Pharmacology & Pharmacy
Sofia Sagredou, Panagiotis Dalezis, Eirini Papadopoulou, Maria Voura, Maria V. Deligiorgi, Michail Nikolaou, Mihalis I. Panayiotidis, George Nasioulas, Vasiliki Sarli, Dimitrios T. Trafalis
Summary: MSI, TMB, and PD-L1 are established as immunotherapy predictive biomarkers, with the compound KA39 showing potent anticancer activity through PD-L1 upregulation and MSI increase, particularly affecting MMR-deficient cells.
Review
Genetics & Heredity
Miroslav Radman
Summary: This passage discusses some basic aspects of biological uniqueness in species and individuals, including DNA sequence homology, protein sequence identification, and the suppression of gene sharing between closely related genomes.
FRONTIERS IN GENETICS
(2022)
Article
Oncology
Mohammad A. Makrooni, Brian O'Sullivan, Cathal Seoighe
Summary: This study identified two sources of bias in current methods to calculate tumour mutation burden (TMB), and found that TMB estimation is not robust to sequencing depth. Furthermore, mutations with frequencies below a threshold are not considered, leading to a biased estimate of TMB. This highlights the importance of accurate and robust estimation of TMB using statistical models.
Article
Oncology
Jia Li, Huahua Li, Chenyue Zhang, Chenxing Zhang, Lifeng Jiang, Haiyong Wang, Huaimin Liu
Summary: A three-gene signature related to the immunosuppressive tumor microenvironment was identified to predict the risk and prognosis of patients with EGFR-mutant lung adenocarcinoma. The signature accurately identified high-risk patients with significantly shorter overall survival, showcasing its potential clinical utility. Additionally, immune cell infiltration analysis revealed distinct immune activities in different risk groups, highlighting the importance of immune response in EGFR-mutant lung adenocarcinoma.
FRONTIERS IN ONCOLOGY
(2021)
Article
Genetics & Heredity
Tom Walsh, Silvia Casadei, Katherine M. Munson, Mary Eng, Jessica B. Mandell, Suleyman Gulsuner, Mary-Claire King
Summary: Current clinical approaches for mutation discovery are based on short sequence reads targeting exons and splice sites, which are accurate for single nucleotide variants but limited in identifying complex insertions and deletions. By combining CRISPR-Cas9 excision with long-read sequencing, the study revealed a class of complex and damaging mutations that may be particularly frequent in tumor suppressor genes with intronic repeats.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Ju Liu, Jiawei Li, Yan Zhu, Rui Jing, Shi Ding, Jifang Zhang, Leyan Zhao, Ye Chen, Jiwei Shen
Summary: This article describes the research progress of some TKIs and briefly introduces the currently approved TKIs and some drugs under investigation that may have better therapeutic effects, hoping to provide clues to the research of new drugs.
CURRENT MEDICINAL CHEMISTRY
(2023)
Article
Oncology
Francesca Salvianti, Stefania Gelmini, Irene Mancini, Mario Pazzagli, Serena Pillozzi, Elisa Giommoni, Marco Brugia, Francesco Di Costanzo, Francesca Galardi, Francesca De Luca, Francesca Castiglione, Luca Messerini, Pamela Pinzani, Lorenzo Antonuzzo
Summary: Liquid biopsy, including cfDNA and CTCs, shows prognostic value in KRAS mutated mCRC. CTCs are a negative prognostic marker at baseline, while cfDNA is easily accessible for monitoring tumor mutations over time. In longitudinal monitoring, these two markers complement each other in assessing disease progression.
BRITISH JOURNAL OF CANCER
(2021)
Article
Biotechnology & Applied Microbiology
Hong Pang, Yibiao Zhou, Wensui Zhao, Qingwu Jiang
Summary: In Shanghai's Changning district, the incidence of mumps has significantly decreased from 1990 to 2017 with the high coverage of 2-dose MMR vaccination. Children in kindergartens and schools are still the most affected populations. Despite 20 years of MMR vaccination, there has been no increase in mumps incidence in adults. Long-term surveillance is needed for a full evaluation of the MMR vaccination policy impact.
HUMAN VACCINES & IMMUNOTHERAPEUTICS
(2021)
Article
Oncology
Arnab Ghosh, Chitrarpita Das, Sandip Ghose, Arindam Maitra, Bidyut Roy, Partha P. Majumder, Nidhan K. Biswas
Summary: This study provides deep molecular insights into the initiation and progression of oral cancer, highlighting the importance of CASP8 gene mutations and additional alterations in key genes, chromosomal instability, and immune dynamics. The findings contribute to a better understanding of the evolutionary processes and trajectories of oral cancer.
JOURNAL OF PATHOLOGY
(2022)
Article
Genetics & Heredity
Sabine Raad, Marion Rolain, Sophie Coutant, Celine Derambure, Raphael Lanos, Francoise Charbonnier, Jacqueline Bou, Emilie Bouvignies, Gwendoline Lienard, Stephanie Vasseur, Michael Farrell, Olivier Ingster, Stephanie Baert Desurmont, Edwige Kasper, Gaelle Bougeard, Thierry Frebourg, Isabelle Tournier
Summary: The study developed a functional assay directly performed on patients' blood, which can be a useful tool for the rapid clinical classification of germline TP53 variants and detection of non-coding functional variants.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Critical Care Medicine
Pierre-Regis Burgel, Isabelle Durieu, Raphael Chiron, Sophie Ramel, Isabelle Danner-Boucher, Anne Prevotat, Dominique Grenet, Christophe Marguet, Martine Reynaud-Gaubert, Julie Macey, Laurent Mely, Annlyse Fenton, Sebastien Quetant, Lydie Lemonnier, Jean-Louis Paillasseur, Jennifer Da Silva, Clemence Martin
Summary: An observational study in France found that the use of elexacaftor-tezacaftor-ivacaftor in CF patients led to significant improvements in lung function and weight within a short period of time, with most patients no longer requiring long-term oxygen, noninvasive ventilation, and/or enteral tube feeding. Compared to the previous two years, there was a twofold decrease in the number of lung transplantations in CF patients in 2020.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2021)
Review
Genetics & Heredity
Sofia Douzgou, Myfanwy Rawson, Eulalia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler-Noreuil, Paul Kuentz, Grazia M. S. Mancini, Marie-Cecile Maniere, Victor Martinez-Glez, Victoria E. Parker, Robert K. Semple, Siddharth Srivastava, Pierre Vabres, Marie-Claire Y. De Wit, John M. Graham, Jill Clayton-Smith, Ghayda M. Mirzaa, Leslie G. Biesecker
Summary: Growth promoting variants in PIK3CA can cause a range of developmental disorders, grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Managing these conditions presents challenges due to clinical heterogeneity and lack of medical expertise in affected families. A consensus on management guidelines is needed to address these issues effectively.
Letter
Dermatology
A. Sorlin, V. Carmignac, J. Amiel, O. Boccara, S. Fraitag, A. Maruani, M. Theiler, L. Weibel, Y. Duffourd, C. Philippe, C. Thauvin-Robinet, L. Faivre, J. -B. Riviere, P. Vabres, P. Kuentz
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2021)
Letter
Dermatology
N. Kluger, A. Perciaccante, P. Charlier, P. Vabres
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2021)
Article
Genetics & Heredity
Camille Vermersch, Olivia Boccara, Christine Chiaverini, Juliette Mazereeuw-Hautier, Nina Sigg, Stephanie Mallet, Pierre Vabres, Denis Herbreteau, Anne Le Touze, Annabel Maruani, Sophie Leducq
Summary: Health care transition in rare chronic skin diseases presents challenges, with a high rate of lost to follow-up. Early management may be associated with lower lost to follow-up rates. Patients reported overall satisfaction with care but noted a lack of psychological support. Further studies are needed to explore risk factors for unsuccessful health care transition and its implications.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Acoustics
N. Bourgon, V Carmignac, A. Sorlin, Y. Duffourd, C. Philippe, C. Thauvin-Robinet, L. Guibaud, L. Faivre, P. Vabres, P. Kuentz
Summary: This study retrospectively analyzed data from a French multicenter cohort of fetuses with prenatal diagnosis of congenital abnormality. The findings suggest that isolated megalencephaly or hemimegalencephaly may be associated with genetic variants in the PI3K-AKT-mTOR signaling pathway. Limb overgrowth with lymphatic malformations or isolated hemimegalencephaly is likely to be associated with PIK3CA variants.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Pediatrics
Imke Anise Maartje Ditters, Hidde Harmen Huidekoper, Michelle Elisabeth Kruijshaar, Dimitris Rizopoulos, Andreas Hahn, Tiziana Enrico Mongini, Francois Labarthe, Marine Tardieu, Brigitte Chabrol, Anais Brassier, Rossella Parini, Giancarlo Parenti, Nadine Anna Maria Elisabeth van der Beek, Ans Tjitske van der Ploeg, Johanna Maria Pieternel van den Hout
Summary: This study assessed the effect of enzyme replacement therapy (ERT) with alglucosidase alfa on survival and walking ability in patients with classic infantile Pompe disease. The results showed that a high ERT dosage of 40 mg/kg per week significantly improved survival compared to the standard recommended dosage of 20 mg/kg every other week. These findings suggest a need for reconsideration of the currently registered dosage.
LANCET CHILD & ADOLESCENT HEALTH
(2022)
Letter
Dermatology
J. Robert, A. Marchand, J. Mazereeuw-Hautier, O. Boccara, L. Martin, C. Chiaverini, N. Beneton, P. Vabres, X. Balguerie, P. Plantin, D. Bessis, S. Barbarot, A. Dadban, C. Droitcourt, M. Samimi, B. Morel, A. Caille, A. Maruani, S. Leducq
ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
(2022)
Letter
Dermatology
Annabel Maruani, Anne-Guillemette Moineau, Olivia Boccara, Juliette Mazereeuw-Hautier, Sophie Leducq, Didier Bessis, Laurent Guibaud, Pierre Vabres, Stephanie Mallet, Sebastien Barbarot, Christine Chiaverini, Catherine Droitcourt, Anne-Claire Bursztejn, Celine Lengelle, Jean-Baptiste Woillard, Denis Herbreteau, Anne Le Touze, Aurelien Binet, Baptiste Morel, Helene Bourgoin, Valerie Gissot, Bruno Giraudeau, Yves Gruel, Elsa Tavernier, Jerome Rollin
Summary: Slow-flow vascular malformations, especially those with venous components, can cause localized intravascular coagulopathy, resulting in pain and reduced quality of life. Previous studies have shown the effectiveness of mTOR inhibitors, particularly sirolimus, on slow-flow VMs, but the effect on coagulation has been poorly studied, especially in children. Our study provides novel evidence that sirolimus improves coagulation abnormalities in venous malformations, although predictive biomarkers of response to sirolimus were not clearly identified, making this the first attempt to highlight potential predictive markers.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Editorial Material
Dermatology
Nicolas Kluger, Pierre Vabres
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Oncology
Corentin Levacher, Mathieu Viennot, Aurelie Drouet, Ludivine Beaussire, Sophie Coutant, Jean-Christophe Thery, Stephanie Baert-Desurmont, Marick Lae, Philippe Ruminy, Claude Houdayer
Summary: This study investigates the imbalance in circular RNA/messenger RNA ratio in breast cancer and reveals new mechanisms and associated biomarkers. The findings have crucial implications for early detection and prognosis of breast cancer.
Meeting Abstract
Biochemistry & Molecular Biology
Maxime Luu, Alison Foster, Cristina Aguirre Rodriguez, Hanna Westergren, Unai Hernandez Dorronsor, Itziar Martinez Soroa, Derek Lim, Sarah Thompson, Ann Nordgren, Sara Bluefeather, Elise Schaefer, Marc Bardou, Pierre Vabres, Jean-Emmanuel Kurtz, Laurence Faivre
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Laurence Faivre, Jean-Charles Crepin, Manon Reda, Sophie Nambot, Virginie Carmignac, Caroline Abadie, Audrey Putoux, Juliette Mazereeuw-Hautier, Aude Maza, Maxime Luu, Yannis Duffourd, Christophe Philippe, Christel Thauvin-Robinet, Martin Chevarin, Claire Abasq-Thomas, Jeanne Amiel, Stephanie Arpin, Genevieve Baujat, Didier Bessis, Emmanuelle Bourrat, Odile Boute, Anne-Claire Bursztejn, Nicolas Chassaing, Christine Coubes, Patrick Edery, Salima El Chehadeh, Alice Goldenberg, Smail Hadj-Rabia, Damien Haye, Bertrand Isidor, Marie-Line Jacquemont, Didier Lacombe, Bruno Leheup, Ludovic Martin, Anabel Maruani, Fanny Morice-Picard, Florence Petit, Alice Phan, Lucille Pinson, Eve Puzenat, Massimiliano Rossi, Renaud Touraine, Clemence Vanlerberghe, Marie Vincent, Catherine Vincent-Delorme, Sandra Whalen, Marjolaine Willems, Tristan Mirault, Paul Kuentz, Pierre Vabres
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Philippine Garret, Martin Chevarin, Antonio Vitobello, Simon Verdez, Cyril Fournier, Alain Verloes, Emilie Tisserant, Pierre Vabres, Orlane Prevel, Christophe Philippe, Anne-Sophie Denomme-Pichon, Ange-Line Bruel, Frederic Tran Mauthem, Hana Safraou, Aicha Boughalem, Jean-Marc Costa, Detlef Trost, Laurence Faivre, Christel Thauvin-Robinet, Yannis Duffourd
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)